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Article

[Harlequin ichthyosis--medical and psychosocial challenges].

Klinische Padiatrie - 1 Mar 2010

Eilers E, Stieler K, Thies C, Blume-Peytavi U, Obladen M, Hüseman D

Abstract excerpt

Harlequin ichthyosis is the most severe congenital keratinizing disorder. It is caused by mutations in the ABCA12 gene leading to defective lipid transport. The infants are born with ectropion, eclabium and fissured plate-like skin. Today these infants can survive with neonatal intensive care and...

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Source

Identifiers

PMID: 20166009
DOI: 10.1055/s-0029-1220943

Genes

ABCA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20166009-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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